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Detection of long repeat expansions from PCR-free whole-genome sequence data
Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Zoya Kingsbury, Sean J. Humphray, Raymond D. Schellevis, William J. Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H.P. Tazelaar, Michael A. van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Leonard H. van den Berg, David R. Bentley, Michael A. Eberle, Jan H. Veldink
doi: https://doi.org/10.1101/093831
Egor Dolzhenko
1Illumina Inc., 5200 Illumina Way, San Diego, CA, USA
Joke J.F.A. van Vugt
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Richard J. Shaw
3Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, UK
4Repositive Ltd., Future Business Centre, Kings Hedges Rd, Cambridge, UK
Mitchell A. Bekritsky
3Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, UK
Marka van Blitterswijk
5Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Zoya Kingsbury
3Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, UK
Sean J. Humphray
3Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, UK
Raymond D. Schellevis
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
William J. Brands
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Matt Baker
5Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Rosa Rademakers
5Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Maarten Kooyman
6SURFsara, Science Park 140, Amsterdam, The Netherlands
Gijs H.P. Tazelaar
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Michael A. van Es
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Russell McLaughlin
7Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland.
8Department of Neurology, Beaumont Hospital, Dublin, Republic of Ireland
William Sproviero
9Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK
Aleksey Shatunov
9Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK
Ashley Jones
9Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK
Ahmad Al Khleifat
9Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK
Alan Pittman
10Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
Sarah Morgan
10Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
Orla Hardiman
7Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland.
8Department of Neurology, Beaumont Hospital, Dublin, Republic of Ireland
Ammar Al-Chalabi
9Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK
Leonard H. van den Berg
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
David R. Bentley
3Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, UK
Michael A. Eberle
1Illumina Inc., 5200 Illumina Way, San Diego, CA, USA
Jan H. Veldink
2Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Article usage
Posted December 19, 2016.
Detection of long repeat expansions from PCR-free whole-genome sequence data
Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Zoya Kingsbury, Sean J. Humphray, Raymond D. Schellevis, William J. Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H.P. Tazelaar, Michael A. van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Leonard H. van den Berg, David R. Bentley, Michael A. Eberle, Jan H. Veldink
bioRxiv 093831; doi: https://doi.org/10.1101/093831
Detection of long repeat expansions from PCR-free whole-genome sequence data
Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Zoya Kingsbury, Sean J. Humphray, Raymond D. Schellevis, William J. Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H.P. Tazelaar, Michael A. van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Leonard H. van den Berg, David R. Bentley, Michael A. Eberle, Jan H. Veldink
bioRxiv 093831; doi: https://doi.org/10.1101/093831
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